N33K (p.Asn33Lys) variant of CAV3 (Caveolin-3)
N33K (p.Asn33Lys) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome; CAV3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N33K (p.Asn33Lys) variant details
- p.Asn33Lys
- rs1008642
- ClinGen CA119446
- ClinVar RCV000008786
- ClinVar RCV001212042
- Pathogenic
- Long QT syndrome; CAV3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.72
- ESM-1b 0.08
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.78
- CADD 22.40
- ClinVar: Pathogenic (Long QT syndrome)
- EBI: Pathogenic (in RMD2 and MPDT)
- UniProt: Pathogenic (in RMD2 and MPDT)
- Population evidence available
- Structural context available
- Cited in: Two novel CAV3 gene mutations in Japanese families. (PMID 15564037)
- Cited in: Molecular and muscle pathology in a series of caveolinopathy patients. (PMID 15580566)